P 49 A slight change with a major impact – a report on a patient with limb girdle muscular dystrophy

Abstract

Objectives Limb girdle muscular dystrophy is characterized by weakness of the proximal arm and leg muscles. Both autosomal dominant and autosomal recessive inheritance patterns are known. Up to 50 genes are identified to cause autosomal recessive muscular dystrophy, the most prevalent mutations affect the Calpain 3 (CAPN3) gene. Case report We report on a 53-year-old woman, suffering from muscle weakness since her adolescence. At the age of 15, she detected problems climbing stairs; she could attend sport lessons in school but failed to acquire good results. The symptoms worsened over time and she is wheel-chair bound since the age of 32. The family history was uneventful. Neurological examinations as well as the CK analysis were normal in the patient”s parents and her brother and sister. The clinical investigation revealed proximal paresis of the lower extremities as well as bilateral scapula alata. Muscle tendon reflexes were diminished and she reported no sensory disturbances. The laboratory work-up showed elevated levels of CK (maximum 500 U/l). Electromyography and a muscle biopsy of the thigh confirmed a myopathy, but no complementary details emerged. In 2016, genetic analysis was supplemented. We found two heterozygote mutations of the CAPN3 gene (c.550delA and c.2105C > T). Both mutations are rated as pathogenic, the compound heterozygote presentation was confirmed by investigation of the parents which each carried one of the above-mentioned mutations. Conclusion We report on a patient with a severe limb girdle muscular dystrophy with an uneventful family history. Genetic analysis revealed a compound heterozygote mutation of the CAPN3 gene in our index patient.